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GeneQ18032767· pop 6· linked from 2 articles

DGCR6

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Also known as DiGeorge syndrome critical region gene 6

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.

Gene data

DGCR6
Name
DiGeorge syndrome critical region gene 6
Type
protein-coding
Position
18,905,677–18,916,623 (+)
Ensembl
ENSG00000183628
RefSeq RNA
NM_001368242.2, NM_005675.6, XM_047441509.1, XM_047441510.1, XM_054325952.1
RefSeq protein
NP_001355171.1, NP_005666.2, XP_047297465.1, XP_047297466.1, XP_054181927.1

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008].

Gene Ontology

Molecular function

protein binding

Cellular component

nucleusextracellular matrix

via MyGene.info

Gene · Ensembl

DiGeorge syndrome critical region gene 6

Symbol
DGCR6
Biotype
Protein coding
Organism
Homo sapiens
Location
22:18,905,677-18,916,623
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

2 sections
Contents
  • References
  • Further reading

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.

Excerpted from Wikipedia’s “DGCR6” article, available under the CC BY-SA 4.0 licence.

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